The Impact of Spinal Muscular Atrophy on Muscle Function

Motor neurons are specialized nerve cells that send signals from the spinal cord and brainstem to the muscles, helping the body move, sit, stand, lift, swallow, breathe, and maintain posture. When a person has SMA, the body does not produce enough survival motor neuron protein, also called SMN protein, which is essential for motor neuron health. Without enough SMN protein, motor neurons can weaken or atrophy, leading to progressive muscle weakness and muscle wasting. Insufficient SMN protein leads to loss of motor neurons in the spinal cord and causes weakness and wasting of skeletal muscles.

The impact of Spinal Muscular Atrophy on muscle function can vary from person to person, but the condition often affects the muscles closest to the center of the body, including the shoulders, hips, thighs, back, neck, and trunk. This can make everyday movements more difficult, such as holding the head up, sitting upright, reaching, lifting the arms, transferring, walking, coughing, swallowing, or taking deep breaths. SMA is characterized by weakness and wasting in skeletal muscles, and that weakness is often more severe in muscles close to the body’s center than in muscles farther away. 

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